Maure-Blesa Lucia, Rodríguez-Baz Iñigo, Carmona-Iragui Maria, Fortea Juan
Sant Pau Memory Unit, Department of Neurology, Facultad de Medicina, Hospital de la Santa Creu i Sant Pau, Institut d'Investigació Biomèdica Sant Pau (IIB SANT PAU), Universitat Autònoma de Barcelona, Barcelona, Spain.
Center of Biomedical Investigation Network for Neurodegenerative Diseases (CIBERNED), Madrid, Spain.
Curr Top Behav Neurosci. 2025;69:197-226. doi: 10.1007/7854_2024_546.
Down syndrome (DS) is the most frequent cause of intellectual disability of genetic origin, estimated to affect about 1 in 700 babies born worldwide (CDC 2023). In Europe and the United States, current estimates indicate a population prevalence of 5.6 and 6.7 per 10,000 individuals, respectively, which translates to more than 200,000 people in the United States, more than 400,000 people in Europe, and approximately six million worldwide. Advances in healthcare and the treatment of accompanying conditions have significantly prolonged the lifespan of those with DS over the past 50 years. Consequently, there is a pressing need to address the challenges associated with ageing among this population, with Alzheimer's disease (AD) being the primary concern. In this chapter, we will review the significance of studying this population to understand AD biology, the insights gained on AD in DS (DSAD), and how this knowledge can help us understand the AD not only in DS but also in the general population. We will conclude by exploring the objectives that remain to be accomplished.
唐氏综合征（DS）是遗传性智力残疾最常见的病因，据估计，全球每700名出生婴儿中约有1人受其影响（美国疾病控制与预防中心，2023年）。在欧洲和美国，目前的估计表明，每10000人中唐氏综合征的患病率分别为5.6和6.7，这意味着美国有超过20万人、欧洲有超过40万人患有唐氏综合征，全球约有600万人患病。在过去50年里，医疗保健和相关疾病治疗的进步显著延长了唐氏综合征患者的寿命。因此，迫切需要应对这一人群中与衰老相关的挑战，其中阿尔茨海默病（AD）是主要关注点。在本章中，我们将回顾研究这一人群对于理解AD生物学的意义、在唐氏综合征相关阿尔茨海默病（DSAD）中获得的关于AD的见解，以及这些知识如何不仅帮助我们理解唐氏综合征中的AD，还能帮助我们理解普通人群中的AD。我们将通过探讨仍有待实现的目标来结束本章内容。
